Ophthalmological ciliopathies (Version 3.5)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is a component of super panels 'Rare multisystem ciliopathy Super panel' (panel id 728) and 'Paediatric disorders' (panel id 486); it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

This panel was originally developed as part of the ‘Rare multisystem ciliopathy disorders’ panel (https://panelapp.genomicsengland.co.uk/panels/150/) for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

Panel Activity

20 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
John Sayer (Newcastle University)

Group: GeCIP domain
Workplace: NHS clinical service
Tom Cullup (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Penny Clouston (Oxford)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Beth Hoskins (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Andrea Nemeth (University of Oxford)

Group: GeCIP domain
Workplace: NHS clinical service
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Caroline Wright (Genomics England Curator)

Group: Other
Workplace: Genomics England
Olivia Niblock (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Gabrielle Wheway (University of the West of England)

Group: GeCIP domain
Workplace: Research lab
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

93 Entities

93 reviewed, 64 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 93 Entitiess
Green Green List (high evidence)	AHI1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Other Phenotypes Joubert syndrome 3 Joubert syndrome Joubert syndrome-3. Tags
Green Green List (high evidence)	ALMS1	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet UKGTN Phenotypes Alstrom Syndrome Bardet-Biedl Syndrome 203800 Alstrom syndrome Tags
Green Green List (high evidence)	ARL13B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome 8 Tags
Green Green List (high evidence)	ARL3	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Joubert syndrome 35, OMIM:61816 cone-rod dystrophy, MONDO:0015993 Retinitis pigmentosa 83, OMIM:618173 Tags
Green Green List (high evidence)	ARL6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes {Bardet Biedl syndrome 1, modifier of} Bardet-Biedl Syndrome 268000 Bardet Biedl syndrome 3 Tags
Green Green List (high evidence)	ARMC9	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 30, 617622 Tags
Green Green List (high evidence)	B9D2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 Tags
Green Green List (high evidence)	BBS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 13 268000 Bardet Biedl syndrome 1 Bardet Biedl syndrome 11 Tags
Green Green List (high evidence)	BBS10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 10 Tags
Green Green List (high evidence)	BBS12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 12 Tags
Green Green List (high evidence)	BBS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 2 Tags
Green Green List (high evidence)	BBS4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 4 Tags
Green Green List (high evidence)	BBS5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 5 Tags
Green Green List (high evidence)	BBS7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 7 Tags
Green Green List (high evidence)	BBS9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 9 Tags
Green Green List (high evidence)	C21orf2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Jeune asphyxiating thoracic dystrophy (JATD) Jeune Syndrome Spondylometaphyseal dysplasia, axial, 602271 Retinal dystrophy with macular staphyloma, 617547 Tags new-gene-name
Green Green List (high evidence)	C5orf42	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome Oral-facial-digital syndrome type VI Joubert syndrome 17 Tags new-gene-name
Green Green List (high evidence)	C8orf37	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308 Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786 Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200 Tags new-gene-name
Green Green List (high evidence)	CC2D2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome 9 COACH syndrome Joubert syndrome with oculorenal defect Meckel syndrome 6 Meckel syndrome Tags
Green Green List (high evidence)	CENPF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen Phenotypes Stromme syndrome, 243605 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome Tags
Green Green List (high evidence)	CEP104	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 25, 616781 Joubert syndrome 25 Tags
Green Green List (high evidence)	CEP164	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes ciliopathies Nephronophthisis 15 Senior-Loken syndrome Nephronophthisis 15, 614845 Tags
Green Green List (high evidence)	CEP290	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Orphanet Other Phenotypes 610189 Meckel syndrome 4 Senior-Loken syndrome 611755 Joubert syndrome 5 Joubert syndrome with oculorenal defect 610188 Senior-Loken syndrome 6 611134 Meckel syndrome Tags
Green Green List (high evidence)	CEP41	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome 15 Tags
Green Green List (high evidence)	CSPP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome Meckel syndrome Joubert syndrome 21 Meckel-Gruber syndrome Tags
Green Green List (high evidence)	DDX59	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Orofaciodigital syndrome V, 174300 Tags
Green Green List (high evidence)	GLI3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green UKGTN Phenotypes Joubert Syndrome and Senior-Loken Syndrome 24 gene panel Tags
Green Green List (high evidence)	HYLS1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome Hydrolethalus syndrome, 236680 Tags
Green Green List (high evidence)	IFT172	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Retinitis pigmentosa 71, 616394 Short-rib thoracic dysplasia 10 with or without polydactyly Saldino-Mainzer syndrome Jeune syndrome Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 Tags
Green Green List (high evidence)	IFT27	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 19, 615996 Tags
Green Green List (high evidence)	IFT74	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes ?Bardet-Biedl syndrome 20, 617119 Tags
Green Green List (high evidence)	INPP5E	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome Joubert syndrome 1 Tags
Green Green List (high evidence)	IQCB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Senior-Loken syndrome 5, 609254 Senior-Loken syndrome Tags
Green Green List (high evidence)	KIAA0586	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome 23 Joubert syndrome Short-rib thoracic dysplasia 14 with polydactyly Short-rib dysplasia 14 with polydactyly Tags
Green Green List (high evidence)	KIF7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 12 200990 Acrocallosal syndrome 200990 Tags
Green Green List (high evidence)	LAMA1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Poretti-Boltshauser syndrome OMIM:615960 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419 Tags
Green Green List (high evidence)	LZTFL1	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 17, 615994 Tags
Green Green List (high evidence)	MKKS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 6 236700 Tags
Green Green List (high evidence)	MKS1	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Orphanet Other Phenotypes occipital encephalocele Joubert syndrome Bardet-Biedl syndrome Joubert syndrome 28 249000 polydactyly polycystic kidneys Meckel-Gruber syndrome Meckel syndrome renal fibrosis Tags
Green Green List (high evidence)	NPHP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 4 Senior-Loken syndrome 256100 Senior-Loken syndrome-1, 266900 609583 Nephronophthisis 1, juvenile Nephronophthisis Tags
Green Green List (high evidence)	NPHP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Renal-hepatic-pancreatic dysplasia Senior-Loken syndrome Nephronophthisis 3, 604387 Meckel syndrome 7, 267010 Renal-hepatic-pancreatic dysplasia 1, 208540 Nephronophthisis Tags
Green Green List (high evidence)	NPHP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Senior-Loken syndrome Nephronophthisis Senior-Loken syndrome 4, 606996 Nephronophthisis 4, 606966 Tags
Green Green List (high evidence)	OFD1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Other Phenotypes Joubert syndrome 10 X-linked Joubert syndrome Orofaciodigital syndrome I Tags
Green Green List (high evidence)	PMM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Ia 212065 Tags
Green Green List (high evidence)	RPGRIP1L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome 7 Meckel syndrome 5 Joubert syndrome Meckel syndrome Meckel-Gruber syndrome Tags
Green Green List (high evidence)	SCLT1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36) No OMIM phenotype Tags gene-checked
Green Green List (high evidence)	SDCCAG8	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Phenotypes SENIOR-LOKEN SYNDROME Bardet-Biedl Syndrome 613615 Senior-Loken syndrome Tags
Green Green List (high evidence)	SUFU	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Joubert syndrome 32, OMIM:617757 Tags
Green Green List (high evidence)	TBC1D32	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Orofaciodigital syndrome, MONDO:0015375 Tags gene-checked
Green Green List (high evidence)	TCTN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Joubert syndrome Tags
Green Green List (high evidence)	TCTN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Meckel syndrome Joubert syndrome 24 Joubert syndrome, Meckel-Gruber syndrome Tags
Green Green List (high evidence)	TCTN3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome Orofaciodigital syndrome IV Joubert syndrome 18 Meckel-Gruber Mohr-Majewski syndrome Tags
Green Green List (high evidence)	TMEM107	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Meckel syndrome 13, 617562 ?Joubert syndrome 29, 617562 Orofaciodigital syndrome XVI, 617563 Tags
Green Green List (high evidence)	TMEM138	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome with oculorenal defect Joubert syndrome 16 Tags
Green Green List (high evidence)	TMEM216	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome: Meckel-Gruber syndrome Joubert syndrome with oculorenal defect Meckel syndrome Joubert syndrome 2 Tags
Green Green List (high evidence)	TMEM218	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 39, OMIM:619562 Tags gene-checked
Green Green List (high evidence)	TMEM231	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen Phenotypes Meckel syndrome Joubert syndrome 20 Joubert syndrome with oculorenal defect Joubert syndrome 20, 614970 Meckel syndrome 11, 615397 Tags
Green Green List (high evidence)	TMEM237	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome Joubert syndrome with oculorenal defect Joubert syndrome 14 Tags
Green Green List (high evidence)	TMEM67	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome nephronophthisis COACH syndrome Joubert syndrome 6 ?Bardet-Biedl syndrome? Senior-Boichis syndrome 613550 607361 Meckel-Gruber syndrome Meckel syndrome 610688 Nephronophthisis 11 216360 Tags
Green Green List (high evidence)	TRAF3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Phenotypes Senior-Loken syndrome 9 616629 Tags
Green Green List (high evidence)	TTC8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 8 Tags
Green Green List (high evidence)	VPS13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Cohen syndrome, 216550 COHEN SYNDROME Tags
Green Green List (high evidence)	WDPCP	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 15, 615992 Meckel syndrome ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Green Green List (high evidence)	WDR19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 13, 614377 ?Short-rib thoracic dysplasia 5 with or without polydactyly Senior-Loken syndrome 8, 616307 Cranioectodermal dysplasia ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 Jeune syndrome Senior-Loken syndrome ?Cranioectodermal dysplasia 4, 614378 Nephronophthisis Tags
Amber Amber List (moderate evidence)	FAM149B1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Joubert syndrome oral-facial-digital syndrome OFD VI Tags gene-checked
Amber Amber List (moderate evidence)	KIF3B	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes hepatic fibrosis Retinitis pigmentosa 89, OMIM:618955, MONDO:0030071 postaxial polydactyly Tags watchlist
Amber Amber List (moderate evidence)	POC1B	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber UKGTN Phenotypes Senior-Loken Syndrome 24 gene panel Cone-rod dystrophy 20 615973 Joubert Syndrome AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY Tags
Amber Amber List (moderate evidence)	ZNF423	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Orphanet Other Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844 Tags
Red Red List (low evidence)	AIPL1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	B9D1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meckel syndrome 9, OMIM:614209 Meckel syndrome 9, MONDO:0013630 Joubert syndrome 27, OMIM:617120 Joubert syndrome 27, MONDO:0014927 Tags
Red Red List (low evidence)	BBIP1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 18, 615995 Tags
Red Red List (low evidence)	C2orf71	2 reviews	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	CCDC28B	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes ciliopathies {Bardet-Biedl syndrome 1, modifier of}, 209900 Tags
Red Red List (low evidence)	CRB1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	CRX	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	EXOC8	1 review 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) Tags
Red Red List (low evidence)	GUCY2D	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	IMPDH1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	KCNJ13	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	KIAA0556	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes ?Joubert syndrome 26 Tags new-gene-name
Red Red List (low evidence)	LCA5	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Leber congenital amaurosis 5, 604537 Ciliopathies Tags
Red Red List (low evidence)	LRAT	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	PDE6D	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Joubert syndrome 22 Joubert Syndrome and Senior-Loken Syndrome 24 gene panel ?Joubert syndrome 22, 615665 Tags
Red Red List (low evidence)	PIBF1	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Literature Research Phenotypes Joubert syndrome ataxia vermis hypoplasia developmental delay thick superior cerebellar peduncles superior cerebellar dysplasia Tags
Red Red List (low evidence)	RD3	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	RDH12	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	RPE65	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	RPGR	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Red Tags
Red Red List (low evidence)	RPGRIP1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Orphanet Phenotypes Meckel syndrome Ciliopathies Tags
Red Red List (low evidence)	SPATA7	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Leber congenital amaurosis 3, 604232 Ciliopathies Retinitis pigmentosa, juvenile, autosomal recessive, 604232 Tags
Red Red List (low evidence)	TOPORS	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	TRIM32	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 11, 615988 Muscular dystrophy, limb-girdle, type 2H, 254110 Tags
Red Red List (low evidence)	TULP1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Retinitis pigmentosa 14, 600132 Leber congenital amaurosis 15, 613843 Ciliopathies Tags

Major version comments

2023-03-22 15:20 Eleanor Williams (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 13:55 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-12-12 13:11 Rebecca Foulger (Genomics England curator) promoted panel to 1.0
The content of this panel (version 0.13) was signed off as part of the 'Paediatric disorders' super panel, under NHS Genomic Medicine Service governance on (12/December/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Ophthalmological ciliopathies (Version 3.5)

20 reviewers

93 Entities

93 reviewed, 64 green

2 reviews

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4 reviews

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2 reviews

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2 reviews

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2 reviews

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2 reviews

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4 reviews

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3 reviews

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4 reviews

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2 reviews

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